Varaico: Literature-Extracted Genetic Variants

AKAP4

91 papers

RefSeq Summary

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoe...

Pfam Domains

RII_binding_1aa 215–233UCSCRII binding domain

AKAP_110aa 230–525UCSCA-kinase anchor protein 110 kDa (AKAP 110)

AKAP_110aa 518–740UCSCA-kinase anchor protein 110 kDa (AKAP 110)

AKAP_110aa 740–854UCSCA-kinase anchor protein 110 kDa (AKAP 110)

Gene Aliases

HGNC Name

A-kinase anchoring protein 4

HGNC Alias Symbols

p82; hAKAP82; AKAP82; Fsc1; HI; CT99

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003886.3

p.A150E

c.449C>A

Surrounding Variants

1 paper

NM_003886.3

p.S152P

c.454T>C

1 paper

NM_003886.3

p.S152T

c.454T>A

1 paper

NM_003886.3

p.T143_G145del3

c.427_434del9

1 paper

NM_003886.3

p.C136R

c.406T>C

1 paper

NM_003886.3

p.S132S

c.396A>C

1 paper

NM_003886.3

p.Q126_H127delFs

c.378_379delGT

1 paper

NM_003886.3

p.N174D

c.520A>G

1 paper

NM_003886.3

p.A182S

c.544G>T

1 paper

NM_003886.3

p.L118F

c.352C>T

1 paper

NM_003886.3

p.L114V

c.340C>G

1 paper

NM_003886.3

p.N112delFs

c.335_336delGT

1 paper

NM_003886.3

p.S109R

c.327T>A